Article
The presence of anaemia negatively influences survival in patients with POLG disease.
Journal of inherited metabolic disease - 1 Nov 2017
Hikmat Omar, Tzoulis Charalampos, Klingenberg Claus, Rasmussen Magnhild, Tallaksen Chantal M E, Brodtkorb Eylert, Fiskerstrand Torunn, McFarland Robert, Rahman Shamima, Bindoff Laurence A
Abstract excerpt
BACKGROUND: Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with haematopoietic dysfunction including anaemia. The aim of this study was to analyse the frequency of anaemia in a large cohort of patients with POLG related disease. METHODS: We conducted a...
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